What are the other Names for this Condition? (Also known as/Synonyms)

• Enhanced S-Cone Syndrome
• Favre Hyaloideoretinal Degeneration
• Retinoschisis with Early Hemeralopia

What is Goldmann-Favre Syndrome? (Definition/Background Information)

• Goldmann-Favre Syndrome, also known as the severe form of Enhanced S-Cone Syndrome, is an inherited eye disease that affects the light-sensitive part of the eye (retina)
• Within the retina are "red," "blue," and "green" cones which allow us to see colors properly; and rods which allows us to see in dim light
• People with Goldmann-Favre Syndrome are born with an overabundance of blue cones, a reduced number of red and green cones, and few, if any, functional rods. As a result they experience an increased sensitivity to blue light, varying degrees of red and green cone vision, night blindness occurring from early life, vision loss, and retinal degeneration
• Goldmann-Favre Syndrome can be caused by mutations in the NR2E3 gene and is inherited in an autosomal recessive fashion
• Treatment may include laser photocoagulation and medication, such as acetazolamide, dorzolamide and cyclosporin A

(Source: Goldmann-Favre Syndrome; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

Who gets Goldmann-Favre Syndrome? (Age and Sex Distribution)

• Goldmann-Favre Syndrome is an extremely rare congenital disorder, with fewer than 20 cases reported worldwide
• The presentation of symptoms may occur in childhood or adolescence
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Goldmann-Favre Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Goldmann-Favre Syndrome can be inherited
• Children born to consanguineous parents may bear an increased risk for the syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Goldmann-Favre Syndrome? (Etiology)

• Goldmann-Favre Syndrome is a genetic disorder involving mutations in the NR2E3 gene, which codes for a nuclear receptor
• The syndrome is inherited as an autosomal recessive trait

Autosomal recessive inheritance: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Goldmann-Favre Syndrome?

The signs and symptoms of Goldmann-Favre Syndrome may vary among affected individuals in type and severity.

• Hemeralopia
• Macular edema
• Nyctalopia
• Pigmentary retinopathy
• Retinoschisis
• Undetectable electroretinogram
• Vitreoretinal degeneration
• Reduced vision in very bright light
• Reduced night vision
• Variable degrees of central vision loss
• Astigmatism
• Esotropia (eye-crossing) 
• Farsightedness in adults

(Source: Goldmann-Favre Syndrome; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

How is Goldmann-Favre Syndrome Diagnosed?

The diagnosis of Goldmann-Favre Syndrome may be made with information gathered from:

• A thorough physical examination
• An assessment of personal and family medical history
• Evaluation of symptoms
• Ophthalmoscopy examination: Examples of Goldmann-Favre Syndrome retinal abnormalities that can be demonstrated by opthalmoscopy include clumps of pigment and atrophic lesions
• Optical coherence tomography: It helps produce specialized photos that show the layers of the retina in cross section. In people with Goldmann-Favre Syndrome, optical coherence tomography shows increased retinal thickening
• Electroretinogram: This diagnostic tool helps measure the activity of the cells in the retina. In Goldmann-Favre Syndrome, electroretinograms may demonstrate no or diminished activity in these cells
• Molecular genetic testing to check for or confirm causative NR2E3 gene mutation(s)

(Source: Goldmann-Favre Syndrome; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Goldmann-Favre Syndrome?

The complications of Goldmann-Favre Syndrome may include:

• Night blindnes
• Progressive loss of visual acuity

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Goldmann-Favre Syndrome Treated?

There is not a cure or specific targeted treatment for Goldmann Favre Syndrome.

• Treatment options for complications such as, retinoschisis and cystoid macular edema may be recommended
• Laser photocoagulation may benefit macular retinoschisis maybe because it results in the debridement of diseased retinal pigment epithelial (RPE) cells and replacement by new cells decreasing the fluid within the macular cysts that could form in the disease
• Some improvement of visual acuity has been reported after treatments with cyclosporin A and bromocriptine
• Acetazolamide, 125 mg twice daily and topical 2% dorzolamide have also worked for some patients with macular edema

(Source: Goldmann-Favre Syndrome; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

How can Goldmann-Favre Syndrome be Prevented?

Goldmann-Favre Syndrome may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Goldmann-Favre Syndrome? (Outcomes/Resolutions)

• The prognosis of Goldmann-Favre Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Some individuals with the condition may experience vision loss in childhood, whereas others may retain sight till old age
• It has been suggested that the presence of retinoschisis may be associated with poorer outcomes

Additional and Relevant Useful Information for Goldmann-Favre Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/